Serum Zn and Cu levels were measured by atomic absorption spectrophotometry in 117 children (aged 3 months to 5 years)-, divided into two groups; 80 children suffered from severe malnutrition and 37 children served as...Serum Zn and Cu levels were measured by atomic absorption spectrophotometry in 117 children (aged 3 months to 5 years)-, divided into two groups; 80 children suffered from severe malnutrition and 37 children served as controls. Significantly lower levels of serum Zn and Cu were found in the malnutrition group. Zn levels of 2. 59 ± 0. 15 μ g/ml as compared to 3. 92 ± 0. 35 μ g/ml in the control group (P = 0. 0037) and Cu levels of 0. 74 ± 0. 05 μ g/ml in the malnutrition group as compared to 1. 19 ± 0. 08 μ g/ml in the control group were observed. Superoxide dismutase activity in children with severe malnutrition was 21. 13 ± 0. 75 U/min per mg protein as compared to 26. 02 ± 0. 66 U/min per mg protein in controls. Absence of breast-feeding, recurrent respiratory tract infection and diarrhoea correlated significantly with low serum Zn and Cu levels. Hypoproteinaemia and anaemia in malnourished children were also associated with a significant decline in both serum Zn and Cu levels. Conclusion: Serum trace element deficiency leading to depleted antioxidant protection may be a contributing factor to the pathophysiology of proteinmalnutrition and replacement of these elements in the management of this condition might be important.展开更多
Purpose: To evaluate the donor retina of a patient with X- linked cone- rod dystrophy caused by an RPGR exon ORF15 mutation. Design: Histopathologic study of the retina. Methods: The eye of a 69- year- old man was fix...Purpose: To evaluate the donor retina of a patient with X- linked cone- rod dystrophy caused by an RPGR exon ORF15 mutation. Design: Histopathologic study of the retina. Methods: The eye of a 69- year- old man was fixed at 1.6 hours postmortem and processed for histopathology and immunocytochemistry. Results: Grossly, the macula was atrophic with a bull’ s- eye appearance. The remaining retina showed postmortem edema but no intraretinal pigment. Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. In the remainder of the retina, cones but not rods were reduced and all photoreceptor outer segments were shortened. Conclusions: The abnormalities in both cone and rod photoreceptors confirm the importance of RPGRin both cell types but leaves unresolved how various exon ORF15 mutations lead to different clinical phenotypes.展开更多
Objectives: To describe the clinical, perimetric, and electroretinographic (ERG) results of 4 patients with cone dysfunction following irofulven treatment including the histopathologic and immunocytochemical features ...Objectives: To describe the clinical, perimetric, and electroretinographic (ERG) results of 4 patients with cone dysfunction following irofulven treatment including the histopathologic and immunocytochemical features of one patient’ s retinas. Design: Observational case series. Methods: The patients were examined clinically, including perimetric and ERG evaluations. Eyes from patient 1 and healthy postmortem eyes were processed for histopathologic and immunocytochemistry studies with antibodies specific for cones, rods, and reactiveMü ller cells. Main Outcome Measures: Clinical signs and symptoms, perimetry, ERG, retinal histopathologic and immunocytochemistry study results. Results: All 4 patients had ERG changes consistent with abnormal cone responses and relatively normal rod responses. Compared with control eyes, the retina of patient 1 had approximately half the normal numbers of macular cones and fewer peripheral cones. The number of rods were normal but all rod and cone outer segments were shortened. Conclusion: High-dose irofulven treatment causes cone-specific damage with relative sparing of rods.展开更多
文摘Serum Zn and Cu levels were measured by atomic absorption spectrophotometry in 117 children (aged 3 months to 5 years)-, divided into two groups; 80 children suffered from severe malnutrition and 37 children served as controls. Significantly lower levels of serum Zn and Cu were found in the malnutrition group. Zn levels of 2. 59 ± 0. 15 μ g/ml as compared to 3. 92 ± 0. 35 μ g/ml in the control group (P = 0. 0037) and Cu levels of 0. 74 ± 0. 05 μ g/ml in the malnutrition group as compared to 1. 19 ± 0. 08 μ g/ml in the control group were observed. Superoxide dismutase activity in children with severe malnutrition was 21. 13 ± 0. 75 U/min per mg protein as compared to 26. 02 ± 0. 66 U/min per mg protein in controls. Absence of breast-feeding, recurrent respiratory tract infection and diarrhoea correlated significantly with low serum Zn and Cu levels. Hypoproteinaemia and anaemia in malnourished children were also associated with a significant decline in both serum Zn and Cu levels. Conclusion: Serum trace element deficiency leading to depleted antioxidant protection may be a contributing factor to the pathophysiology of proteinmalnutrition and replacement of these elements in the management of this condition might be important.
文摘Purpose: To evaluate the donor retina of a patient with X- linked cone- rod dystrophy caused by an RPGR exon ORF15 mutation. Design: Histopathologic study of the retina. Methods: The eye of a 69- year- old man was fixed at 1.6 hours postmortem and processed for histopathology and immunocytochemistry. Results: Grossly, the macula was atrophic with a bull’ s- eye appearance. The remaining retina showed postmortem edema but no intraretinal pigment. Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. In the remainder of the retina, cones but not rods were reduced and all photoreceptor outer segments were shortened. Conclusions: The abnormalities in both cone and rod photoreceptors confirm the importance of RPGRin both cell types but leaves unresolved how various exon ORF15 mutations lead to different clinical phenotypes.
文摘Objectives: To describe the clinical, perimetric, and electroretinographic (ERG) results of 4 patients with cone dysfunction following irofulven treatment including the histopathologic and immunocytochemical features of one patient’ s retinas. Design: Observational case series. Methods: The patients were examined clinically, including perimetric and ERG evaluations. Eyes from patient 1 and healthy postmortem eyes were processed for histopathologic and immunocytochemistry studies with antibodies specific for cones, rods, and reactiveMü ller cells. Main Outcome Measures: Clinical signs and symptoms, perimetry, ERG, retinal histopathologic and immunocytochemistry study results. Results: All 4 patients had ERG changes consistent with abnormal cone responses and relatively normal rod responses. Compared with control eyes, the retina of patient 1 had approximately half the normal numbers of macular cones and fewer peripheral cones. The number of rods were normal but all rod and cone outer segments were shortened. Conclusion: High-dose irofulven treatment causes cone-specific damage with relative sparing of rods.
